Metadata | |
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ID | DOID:0051051 |
Name | congenital disorder of glycosylation type IIw |
Definition | A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. https://pubmed.ncbi.nlm.nih.gov/33964207/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |